Incidental Mutation 'IGL01809:Fam114a2'
ID155780
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam114a2
Ensembl Gene ENSMUSG00000020523
Gene Namefamily with sequence similarity 114, member A2
Synonyms1810073G14Rik, 9030624B09Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.146) question?
Stock #IGL01809
Quality Score
Status
Chromosome11
Chromosomal Location57482993-57518617 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 57513635 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020831] [ENSMUST00000108850]
Predicted Effect probably null
Transcript: ENSMUST00000020831
SMART Domains Protein: ENSMUSP00000020831
Gene: ENSMUSG00000020523

DomainStartEndE-ValueType
Pfam:DUF719 68 236 5e-72 PFAM
low complexity region 263 275 N/A INTRINSIC
low complexity region 338 355 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000108850
SMART Domains Protein: ENSMUSP00000104478
Gene: ENSMUSG00000020523

DomainStartEndE-ValueType
Pfam:DUF719 77 243 4.5e-71 PFAM
low complexity region 270 282 N/A INTRINSIC
low complexity region 345 362 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130596
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,290,339 N734I probably damaging Het
Abi1 T C 2: 22,946,717 I371V probably benign Het
Atp8b3 A G 10: 80,520,011 F1289S probably benign Het
Brca2 T A 5: 150,531,061 probably null Het
C8a A T 4: 104,845,942 I306N probably benign Het
Crybg3 G T 16: 59,524,853 probably benign Het
Disp2 T A 2: 118,787,264 probably benign Het
Dtl A G 1: 191,548,303 F373S probably damaging Het
Dynlt1a G A 17: 6,310,872 probably null Het
Dyrk1a G A 16: 94,659,617 R44H probably benign Het
Fsip2 A G 2: 82,978,347 E1670G possibly damaging Het
Gbp10 A T 5: 105,217,359 N594K probably benign Het
Gpam T A 19: 55,075,625 K679* probably null Het
Gtf2i A T 5: 134,249,950 V524E probably damaging Het
Itpr2 T A 6: 146,227,581 E2011D probably damaging Het
Jag1 C A 2: 137,115,484 G103W probably damaging Het
Klkb1 A T 8: 45,276,053 V378E probably benign Het
Lyst T A 13: 13,637,803 S933R probably damaging Het
Man2b2 T C 5: 36,814,516 S619G probably benign Het
Mex3b T C 7: 82,869,712 S412P probably benign Het
Mtf2 A G 5: 108,087,325 I36V probably benign Het
Nckipsd T C 9: 108,817,554 Y652H probably damaging Het
Olfr1136 T C 2: 87,693,745 I46V possibly damaging Het
Olfr870 A G 9: 20,171,295 I92T probably damaging Het
Olfr968 A T 9: 39,772,694 Y35* probably null Het
Olfr994 A G 2: 85,430,154 L225P probably damaging Het
Phykpl T C 11: 51,599,524 F411L probably benign Het
Rbm8a T A 3: 96,631,537 F101I probably damaging Het
Rbp3 G T 14: 33,955,300 G402W probably damaging Het
Recql4 G A 15: 76,708,870 R254* probably null Het
Rsph14 G A 10: 74,957,786 probably benign Het
Stau2 A T 1: 16,440,315 probably null Het
Tmprss11c G A 5: 86,237,662 S304L possibly damaging Het
Vipr1 T G 9: 121,661,440 M184R possibly damaging Het
Zfp106 G A 2: 120,533,671 R752C probably damaging Het
Other mutations in Fam114a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00655:Fam114a2 APN 11 57487587 missense probably damaging 1.00
IGL00943:Fam114a2 APN 11 57514273 start codon destroyed probably null 1.00
IGL01972:Fam114a2 APN 11 57509394 missense probably damaging 1.00
IGL02541:Fam114a2 APN 11 57499801 missense probably benign 0.41
R0010:Fam114a2 UTSW 11 57514156 missense probably damaging 1.00
R1594:Fam114a2 UTSW 11 57513240 critical splice donor site probably null
R1645:Fam114a2 UTSW 11 57499795 missense probably benign 0.00
R2426:Fam114a2 UTSW 11 57493080 missense probably benign 0.00
R3021:Fam114a2 UTSW 11 57499799 missense probably benign 0.01
R3107:Fam114a2 UTSW 11 57499735 missense probably benign 0.39
R6149:Fam114a2 UTSW 11 57487589 missense probably benign 0.05
R6248:Fam114a2 UTSW 11 57493116 missense possibly damaging 0.51
R6306:Fam114a2 UTSW 11 57514146 missense probably damaging 1.00
R6933:Fam114a2 UTSW 11 57484071 missense probably benign 0.04
Posted On2014-02-04